title: Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.
abstract: OBJECTIVE
  The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing.
  
  
  METHODS
  Telephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations.
  
  
  RESULTS
  Questionnaires were completed with 200 participants. Responses indicated that participants' perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences).
  
  
  CONCLUSIONS
  Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.
authors.affiliation: Leeds Institute of Health Sciences, University of Leeds, UK.
authors.forename: T A
authors.initials: TA
authors.lastname: Willis
authors.forename: B
authors.initials: B
authors.lastname: Potrata
authors.forename: M
authors.initials: M
authors.lastname: Ahmed
authors.forename: J
authors.initials: J
authors.lastname: Hewison
authors.forename: R
authors.initials: R
authors.lastname: Gale
authors.forename: L
authors.initials: L
authors.lastname: Downey
authors.forename: M
authors.initials: M
authors.lastname: McKibbin
mesh_terms: D000328:Adult; D000368:Aged; D004739:England; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000523:psychology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D008875:Middle Aged; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D011795:Surveys and Questionnaires
keywords: Genetics; Retina